rs371047262
Positions:
- chr17-31232043-ATTTTTTTTTTTTTTT-A
- chr17-31232043-ATTTTTTTTTTTTTTT-AT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTTTTTTT
- chr17-31232043-ATTTTTTTTTTTTTTT-ATTTTTTTTTTTTTTTTTTTTTTTT
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001042492.3(NF1):c.3198-18_3198-4delTTTTTTTTTTTTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000022 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000036 ( 1 hom. )
Failed GnomAD Quality Control
Consequence
NF1
NM_001042492.3 splice_region, intron
NM_001042492.3 splice_region, intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.14
Genes affected
NF1 (HGNC:7765): (neurofibromin 1) This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NF1 | NM_001042492.3 | c.3198-18_3198-4delTTTTTTTTTTTTTTT | splice_region_variant, intron_variant | ENST00000358273.9 | NP_001035957.1 | |||
NF1 | NM_000267.3 | c.3198-18_3198-4delTTTTTTTTTTTTTTT | splice_region_variant, intron_variant | NP_000258.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NF1 | ENST00000358273.9 | c.3198-18_3198-4delTTTTTTTTTTTTTTT | splice_region_variant, intron_variant | 1 | NM_001042492.3 | ENSP00000351015.4 |
Frequencies
GnomAD3 genomes AF: 0.0000220 AC: 2AN: 90908Hom.: 0 Cov.: 0
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000361 AC: 18AN: 499014Hom.: 1 AF XY: 0.0000419 AC XY: 11AN XY: 262428
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Data not reliable, filtered out with message: AS_VQSR
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GnomAD4 genome AF: 0.0000220 AC: 2AN: 90908Hom.: 0 Cov.: 0 AF XY: 0.0000238 AC XY: 1AN XY: 42040
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ClinVar
Not reported inComputational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at